title: Molybdenum cofactor deficiency-phenotypic variability in a family with a late-onset variant.
abstract: In a family with molybdenum cofactor deficiency, the onset in the index case was delayed until 1 year of age, when the patient presented with an episode of lethargy and inconsolable crying culminating in a seizure. By 17 months she showed mild motor delay, regression in language skills, and feeding difficulties. Progressive global deterioration followed, associated with sustained irritability, dystonic posturing, and further seizures, before her condition subsequently plateaued. Low plasma uric acid, raised urinary xanthine and hypoxanthine, and positive urinary sulphite were found, which, coupled with assay of sulphite oxidase activity in cultured fibroblasts, confirmed the diagnosis. A sibling had isolated lens dislocation and an identical biochemical profile. MRI in both children was strikingly abnormal. Molybdenum cofactor deficiency may present as a late-onset variant with considerable phenotypic variability.
authors.affiliation: Department of Paediatric Neurology, Newcomen Centre, Guy's Hospital, London, UK.
authors.forename: E F
authors.initials: EF
authors.lastname: Hughes
authors.forename: L
authors.initials: L
authors.lastname: Fairbanks
authors.forename: H A
authors.initials: HA
authors.lastname: Simmonds
authors.forename: R O
authors.initials: RO
authors.lastname: Robinson
mesh_terms: D017668:Age of Onset; D001526:Behavioral Symptoms; D001921:Brain / Q000473:pathology; D002648:Child; D003937:Diagnosis, Differential; D005195:Family Relations; D005260:Female; D006801:Humans; D019271:Hypoxanthine / Q000652:urine; D007223:Infant; D007906:Lens Subluxation / Q000209:etiology; D008279:Magnetic Resonance Imaging; D008982:Molybdenum / Q000172:deficiency*; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000378:metabolism; D010641:Phenotype; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology*; D014527:Uric Acid / Q000097:blood; D019820:Xanthine / Q000652:urine
chemical_list: D019820:Xanthine; D014527:Uric Acid; D019271:Hypoxanthine; D008982:Molybdenum; D050862:Oxidoreductases Acting on Sulfur Group Donors